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NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 29, 2014)
Last evaluated:
Feb 27, 2014
Accession:
VCV000132138.1
Variation ID:
132138
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)

Allele ID
136360
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178545878 (GRCh38) GRCh38 UCSC
2: 179410605 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.289925C>G
NC_000002.11:g.179410605G>C
NC_000002.12:g.178545878G>C
... more HGVS
Protein change
N31786K, N22721K, N29218K, N22846K, N30145K, N22913K
Other names
Q8WZ42.4:p.Asn30145Lys
Canonical SPDI
NC_000002.12:178545877:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA358830
dbSNP: rs869320743
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 27, 2014 RCV000119026.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7529 17630
TTN-AS1 - - - GRCh38 - 9875

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 27, 2014)
no assertion criteria provided
Method: literature only
Hereditary myopathy with early respiratory failure
Allele origin: germline
GeneReviews
Accession: SCV000153728.2
Submitted: (May 29, 2014)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Hereditary Myopathy with Early Respiratory Failure Pfeffer G - 2020 PMID: 24575448

Text-mined citations for rs869320743...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 06, 2021